Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection.
D002675:Child, Preschool; D005347:Fibroblasts / Q000201:enzymology*; D006579:Heterozygote; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008297:Male; D001405:Reflex, Babinski; D012867:Skin / Q000201:enzymology*; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases